Linked Data
ClinVar Variation Id:
2950663
ClinVar RCV Id:
RCV003809973
dbSNP Id:
rs2076118603
gnomAD v4:
X-67717536-G-T
MyVariant Identifiers:
chrX:g.66937378G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717536G>T , CM000685.2:g.67717536G>T | GRCh38 |
| NC_000023.10:g.66937378G>T , CM000685.1:g.66937378G>T | GRCh37 |
| NC_000023.9:g.66854103G>T | NCBI36 |
| NG_009014.2:g.178505G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*580G>T | ENSP00000379358.4:n.*580G>T | |
| ENST00000374690.9:c.2232G>T MANE Select | ENSP00000363822.3:p.Gly744= | |
| ENST00000396043.3:c.859G>T | ENSP00000379358.3:n.859G>T | |
| ENST00000396044.8:c.2173+5847G>T | ENSP00000379359.3:n.2173+5847G>T | |
| ENST00000612452.5:c.2232G>T | ENSP00000484033.2:p.Gly744= | |
| ENST00000374690.7:c.2232G>T | ENSP00000363822.3:p.Gly744= | |
| ENST00000396043.2:c.636G>T | ENSP00000379358.2:p.Gly212= | |
| ENST00000396044.7:c.2173+5847G>T | ENSP00000379359.3:n.2173+5847G>T | |
| ENST00000612452.4:c.1662G>T | ENSP00000484033.1:p.Gly554= | |
| NM_000044.3:c.2232G>T | NP_000035.2:p.Gly744= | |
| NM_001011645.2:c.636G>T | NP_001011645.1:p.Gly212= | |
| NM_000044.4:c.2232G>T | NP_000035.2:p.Gly744= | |
| NM_001011645.3:c.636G>T | NP_001011645.1:p.Gly212= | |
| NM_000044.6:c.2232G>T MANE Select | NP_000035.2:p.Gly744= |